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Variant ID | 100 |
---|---|
Genomic Coordinate (GRCh38) | g.22047126del |
Variant | c.264del |
Variant Start Position | 264 |
Location | Exon 3 |
Amino Acid Change | p.Trp88* |
ACMG Call | - |
ACMG Call Last Revised Date | 4/28/2021 |
Predicted ACMG Call | Pathogenic | Effect Type | Nonsense |
Variant Type | Small deletion |
PMID | 23813354, 21293852, 18046499, 24857004, 34806794 |
Article Count | 5 |
Times Observed | 3-5 |
Clinical Phenotype | - |
ACMG Categories | pvs1, pm2, pp1 |
ACMG Explanations | pvs1: This is a loss of function variant. pm2: chrX:22065244 ref:G alt:A was not found in gnomAD exomes or genomes. chrX:22065243 ref:G alt:A was not found in gnomAD exomes or genomes. chrX:22065242 ref:TG alt:T was not found in gnomAD exomes or genomes. |
Variant in Clinvar | No |
ClinVar Classification | - |
Categories In Literature | pp1 |
No Contrary Evidence Found | Yes |
ExAC Allele Frequency | - |
Thousand Genomes Allel Frequency | - |
Ontology Relations | - |
hg19 Mapping Failed | No |
Literature Alleles | X-22065242-TG-T |
GnomAD Alleles | - |
DBNSFP Alleles | X-22065244-G-A X-22065243-G-A |
Other Alleles | X-22065243-GG-AA |
Note | nan |
Warnings | - |